Canonical Allele Identifier: CA13448191
Gene: MMP1 HGNC NCBI
WTAPP1 HGNC NCBI
gnomAD v2:
11:102667063 C / T
gnomAD v3:
11:102796332 C / T
gnomAD v4:
chr11-102796332-C-T
Joint Max Group AF 0.44483788 (EAS)
Genomes Max Group AF 0.44483788 (EAS)
ClinVar RCV:
RCV001683928
ClinVar Variation:
1269770
dbSNP:
996999
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.102796332C>T , CM000673.2:g.102796332C>T GRCh38
NC_000011.9:g.102667063C>T , CM000673.1:g.102667063C>T GRCh37
NC_000011.8:g.102172273C>T NCBI36
NG_011740.1:g.6904G>A
NG_011740.2:g.6904G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000315274.7:c.625+332G>A (MMP1) MANE Select ENSP00000322788.6:n.625+332G>A
ENST00000315274.6:c.625+332G>A (MMP1) ENSP00000322788.6:n.625+332G>A
ENST00000371455.7:n.325-1692C>T (WTAPP1)
ENST00000525739.6:n.583+1108C>T (WTAPP1)
ENST00000544704.1:n.345-1692C>T (WTAPP1)
NM_001145938.1:c.427+332G>A (MMP1) NP_001139410.1:n.427+332G>A
NM_002421.3:c.625+332G>A (MMP1) NP_002412.1:n.625+332G>A
NR_038390.1:n.583+1108C>T (WTAPP1)
NM_002421.4:c.625+332G>A (MMP1) MANE Select NP_002412.1:n.625+332G>A
NM_001145938.2:c.427+332G>A (MMP1) NP_001139410.1:n.427+332G>A
Search 100 bp 5'
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